儿童肝糖原贮积病25例的临床特点及随访结局  

Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease

作　　者：刘文雯 王美娟[1] 金萌[1] 张姌 米明冉 钟雪梅[1] Liu Wenwen;Wang Meijuan;Jin Meng;Zhang Ran;Mi Mingran;Zhong Xuemei(Department of Gastroenterology,Children′Hospital,Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院消化内科,北京100010

出　　处：《中华肝脏病杂志》2025年第1期63-69,共7页Chinese Journal of Hepatology

基　　金：北京市医院管理中心消化内科学科协同发展中心重点项目(XXZ0505)。

摘　　要：目的探讨肝糖原贮积病的临床特点、基因特征和随访情况,以期进一步改善肝糖原贮积病患儿的预后。方法收集2010年1月—2023年4月在首都儿科研究所附属儿童医院消化内科诊断为肝糖原贮积病住院患儿的临床资料,回顾性分析患儿实验室检查及基因测序结果。根据基因测序结果将病例数(n)大于3例的进行分组:1组为Ⅰ型(n=8)、2组为Ⅲ型(n=5),3组为Ⅸa型(n=8)。随访患儿生长发育及预后情况,总结儿童肝糖原贮积病的相关临床特点。计量资料采用独立样本t检验进行统计学分析。结果纳入研究肝糖原贮积病患儿25例,男性15例,女性10例,确诊年龄(29.1±13.5)个月,伴不同程度的低血糖12例(48.0%,12/25),出现严重低血糖2例(8.0%,2/25);合并身高发育迟缓19例(76.0%,19/25),贫血4例(16.0%,4/25),蛋白尿3例(12.0%,3/25),胆汁淤积1例(4.0%,1/25)。基因测序结果提示,Ⅰa型4例(16.0%,4/25),Ⅰb型4例(16.0%,4/25),Ⅱ型1例(4.0%,1/25),Ⅲ型5例(20.0%,5/25),Ⅳ型2例(8.0%,2/25),Ⅵ型1例(4.0%,1/25),Ⅸa型8例(32.0%,8/25)。三组组间的尿酸、甘油三酯差异具有统计学意义(P值均<0.05),而转氨酶水平、空腹血糖、乳酸、胆固醇、低密度脂蛋白水平差异无统计学意义(P值均>0.05)。比较三组的身高别年龄Z评分,分别为-2.86±1.62、-1.46±1.06、-1.83±0.98,随访至少1年,2组及3组生长发育情况明显较1组改善(P<0.05),Z评分为-2.28±1.07、0.20±1.54、0.10±1.44。随访1年以上,Ⅸa型患儿均已停用生玉米淀粉,转氨酶均正常;4例Ⅰa型患儿目前规律口服生玉米淀粉,转氨酶、尿酸、乳酸正常,其中有监测到低血糖;4例Ⅰb型中1例有反复呼吸道、肠道感染,2例合并克罗恩病;4例Ⅲ型已停用生玉米淀粉,采取高蛋白、低碳水化合物饮食,除检测肌酸激酶偏高,转氨酶正常;1例Ⅵ型已因肝功能衰竭死亡;2例Ⅳ型,1例死亡,1例目前转氨酶稍高。结论当发现患儿存在肝大、转氨酶Objective To explore the clinical and genetic characteristics and follow-up status of pediatric patients with hepatic glycogen storage disease in order to further improve the prognosis.Methods The clinical data of hospitalized children diagnosed with hepatic glycogen storage disease in the Department of Gastroenterology at the Children's Hospital of Capital Institute of Pediatrics from January 2010 to April 2023 were collected and retrospectively analyzed.The results of laboratory examination and gene sequencing were analyzed,and the number of cases that exceeded three(n)were grouped according to the genetic results:Group 1 was typeⅠ(n=8),Group 2 was typeⅢ(n=5),and Group 3 was typeⅨa(n=8).The growth,development and prognosis of the children were followed up.The related clinical characteristics of pediatric hepatic glycogen storage disease were summarized.Results Twenty-five pediatric patients with hepatic glycogen storage disease were enrolled in this study,with fifteen males and ten females.The mean age of diagnosis was(29.1±13.5)months.There were twelve cases(48%)accompanied with varying degrees of hypoglycemia,and two cases(8%)with severe hypoglycemia.There were nineteen cases with stature retardation(76%),four cases with anemia(16%),three cases with proteinuria(12%),and one case with cholestasis(4%).The genetic results showed that there were four cases of typeⅠa(16%),four cases of typeⅠb(16%),one case of typeⅡ(4%),five cases of typeⅢ(20%),two cases of typeⅣ(8%),one case of typeⅥ(4%),and eight cases of typeⅨ(32%).The three subgroups analysis showed that there were significant statistical differences in uric acid and triglycerides among the three groups(P<0.05),while there were no statistical significant differences in transaminase levels,fasting blood glucose,lactate,cholesterol,and low-density lipoprotein levels(P>0.05).The height-for-age Z scores of the three groups were-2.86±1.62,-1.46±1.06,and-1.83±0.98,respectively.The growth and development of groups 2 and 3 were significantly imp

关 键 词：糖原贮积病 儿童 基因 随访 营养管理 遗传学 治疗 

分 类 号：R725.7[医药卫生—儿科]